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Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth. This particular variant of the disorder (GM1), is caused by a recessive mutation to the gene GLB1, and occurs in the Shiba Inu. Related variants of GM1 Gangliosidosis are also found in the Portuguese Water Dog and Alaskan Husky.
Clinical features
Affected dogs generally are characterised by progressive cerebral dysfunction and impaired growth from an early age. Signs include weight loss, ataxia, wide-based gait, decreased proprioception, intention tremor of the head, hypermetria, dysmetria, internal strabismus, and positional nystagmus. Signs begin around 6 to 8 weeks of age, and are clearly noticeable by 7 months of age.
Additional information
References
Pubmed ID: 12555949
Omia ID: 402